Canonical Allele Identifier: CA317939
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 206991
ClinVar RCV Id: RCV000189141 RCV000416964
dbSNP Id: rs796053130
MyVariant Identifiers: chr2:g.166229832C>T (hg19) chr2:g.165373322C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165373322C>T , CM000664.2:g.165373322C>T GRCh38
NC_000002.11:g.166229832C>T , CM000664.1:g.166229832C>T GRCh37
NC_000002.10:g.165938078C>T NCBI36
NG_008143.1:g.138921C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000631182.3:c.3947C>T MANE Plus Clinical ENSP00000486885.1:p.Ala1316Val
ENST00000375437.7:c.3947C>T MANE Select ENSP00000364586.2:p.Ala1316Val
ENST00000636071.2:c.3947C>T ENSP00000490107.1:p.Ala1316Val
ENST00000636135.1:c.*2266C>T ENSP00000489821.1:n.*2266C>T
ENST00000636384.2:c.*1934C>T ENSP00000490765.1:n.*1934C>T
ENST00000636662.2:c.*4470C>T ENSP00000489873.1:n.*4470C>T
ENST00000636769.1:c.*1889C>T ENSP00000490800.1:n.*1889C>T
ENST00000636985.2:c.3551C>T ENSP00000490849.1:p.Ala1184Val
ENST00000637266.2:c.3947C>T ENSP00000490866.1:p.Ala1316Val
ENST00000283256.10:c.3947C>T ENSP00000283256.6:p.Ala1316Val
ENST00000375427.4:c.3947C>T ENSP00000364576.2:p.Ala1316Val
ENST00000375437.6:c.3947C>T ENSP00000364586.2:p.Ala1316Val
ENST00000480032.4:n.7015C>T
ENST00000631182.2:c.3947C>T ENSP00000486885.1:p.Ala1316Val
NM_001040142.1:c.3947C>T NP_001035232.1:p.Ala1316Val
NM_001040143.1:c.3947C>T NP_001035233.1:p.Ala1316Val
NM_021007.2:c.3947C>T NP_066287.2:p.Ala1316Val
XM_005246750.2:c.3947C>T XP_005246807.1:p.Ala1316Val
XM_005246753.2:c.3947C>T XP_005246810.1:p.Ala1316Val
XM_005246754.3:c.3917C>T XP_005246811.1:p.Ala1306Val
XM_005246755.3:c.3194C>T XP_005246812.1:p.Ala1065Val
XM_011511608.1:c.3947C>T XP_011509910.1:p.Ala1316Val
XM_011511609.1:c.3947C>T XP_011509911.1:p.Ala1316Val
XM_005246753.3:c.3947C>T XP_005246810.1:p.Ala1316Val
XM_017004656.1:c.3947C>T XP_016860145.1:p.Ala1316Val
XM_017004657.1:c.3947C>T XP_016860146.1:p.Ala1316Val
XM_017004658.1:c.3194C>T XP_016860147.1:p.Ala1065Val
XM_017004659.1:c.1745C>T XP_016860148.1:p.Ala582Val
XM_024453037.1:c.3194C>T XP_024308805.1:p.Ala1065Val
NM_001040142.2:c.3947C>T MANE Select NP_001035232.1:p.Ala1316Val
NM_001040143.2:c.3947C>T NP_001035233.1:p.Ala1316Val
NM_001371246.1:c.3947C>T MANE Plus Clinical NP_001358175.1:p.Ala1316Val
NM_001371247.1:c.3947C>T NP_001358176.1:p.Ala1316Val
NM_021007.3:c.3947C>T NP_066287.2:p.Ala1316Val
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